Varaico: Literature-Extracted Genetic Variants

NOTCH1

2,810 papers

RefSeq Summary

This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multipl...

Pfam Domains

EGFaa 106–137UCSCEGF-like domain

EGFaa 144–174UCSCEGF-like domain

EGF_CAaa 178–219UCSCCalcium-binding EGF domain

EGFaa 222–253UCSCEGF-like domain

EGFaa 261–291UCSCEGF-like domain

EGF_CAaa 295–335UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 1

HGNC Previous Symbol

TAN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017617.5

p.F474V

c.1420T>G

Surrounding Variants

1 paper

NM_017617.5

p.F474L

c.1420T>C

1 paper

NM_017617.5

p.F474I

c.1420T>A

1 paper

NM_017617.5

p.E473D

c.1419G>T

1 paper

NM_017617.5

p.F474L

c.1422C>G

1 paper

NM_017617.5

p.F474L

c.1422C>A

3 papers

NM_017617.5

p.E473V

c.1418A>T

1 paper

NM_017617.5

p.G472delFs

c.1416delC

4 papers

NM_017617.5

p.E473*

c.1417G>T

1 paper

NM_017617.5

p.E473K

c.1417G>A

3 papers

NM_017617.5

p.Q475*

c.1423C>T

1 paper

NM_017617.5

p.A465_F474del10

c.1393_1421del30

1 paper

NM_017617.5

p.G472fs

c.1414_1415fs